MED13L #59

About MED13L

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The purpose of our team is to bring awareness to MED13L syndrome.

"MED13L syndrome is a complex developmental disorder with a spectrum of symptoms including developmental delays, intellectual disability, and distinct facial features. It often involves challenges with muscle tone, motor skills, speech, social interaction, autism, behavior concerns, seizures, or congenital heart defects.

This rare condition arises from mutations in the MED13L gene, crucial for regulating gene activity during development. Inheritance is typically autosomal dominant, with most cases resulting from new mutations."

MED13L syndrome is a relatively new diagnosis and, as mentioned, is considered a rare syndrome. However, it is thought that MED13L is rare, not in the way that few have it, but that it is not diagnosed properly with most. The majority of doctors do not even know about the syndrome, let alone how to treat it. Using the words of the MED13L Foundation, "A significant challenge of the MED13L community is that families often see specialists who do not have the knowledge or experience to properly manage their care due to the rarity and unknowns of their disorder." Many of those with MED13L get diagnosed with things like cerebral palsy or autism instead.

My little sister (and only sister of my six siblings) is one of many children with MED13L syndrome, being on rather the severe end of the spectrum. Coming with MED13L, she has lots of abnormalities, including all of the aforementioned symptoms. She is at about the cognitive level of an infant and is nonverbal—she still cannot speak and struggles with communicating effectively—but she’s special. ❤️

If you'd like to know more about the syndrome, please check out med13l.org or the following presentation (believe me, it's not altogether boring):

https://docs.google.com/presentation/d/19pZWwSTQteypTDO-xMB78Tbn9hBLXAkBRil1cFfdvSE/edit?pli=1

❝ Making rare mean recognized, not forgotten. ❞ – The MED13L Foundation